Otoferlin_Registry

Home of the #Otoferlin #Registry. A place for #OTOF patients and families to learn and connect. #HearingLoss @AuditoryNeuros

[Otoferlin_Registry @Otoferlin_Group]

Welcome to the #Otoferlin #OTOF info group! This is a space to talk and learn about #Otoferlin, the #InnerEar, #HearingLoss and some of the #Genetics involved in #Otoferlin. Let’s start with a thread:

[Otoferlin_Registry @Otoferlin_Group]

Being active in #Otoferlin research, we find patient engagement one of the most powerful ways to inform our work. We look forward to collaborating with patients and families. Please RT and share broadly!

[Otoferlin_Registry @Otoferlin_Group]

We have some big news! Just as #2023 comes to an end, we announce the start of our #Otoferlin patient registry with a name change! We are very excited about this initiative and invite you to check it out! https://t.co/vICnlNMIOo

[Otoferlin_Registry @Otoferlin_Group]

The patient journey through diagnosis @eurodis @Solve_RD

[Otoferlin_Registry @Otoferlin_Group]

Temperature sensitive auditory neuropathy merits deeper understanding also with respect to the full scope of genetic variants. There are likely to be many more temperature sensitive auditory neuropathy-causing variants that we do not yet know about. 8/8

[Otoferlin_Registry @Otoferlin_Group]

Temperature sensitive auditory neuropathy is a rare challenge some #OTOF patients face and is described as hearing impairment that progressively worsens with increased body temperature during fever or exercise but returns to baseline when body temperature returns to normal. 🧵1/8

[Otoferlin_Registry @Otoferlin_Group]

This suggested the protein unfolded quickly following increased temperatures but seemed to re-fold when returning back to physiological temperatures although much remains to be uncovered to learn how exactly this happens and why certain variants seem prone to this. 7/8

[Shari Eberts @sharieberts]

Ear and Hearing Care for All! That is the theme of the 2023 #WorldHearingDay this year! I am proud to be participating in a LIVE stream discussing #HearingCare in 2023. Join me and @hearing_mattas for an awesome time! March 3, 2023 at 6:00 p.m. EST.

[Otoferlin_Registry @Otoferlin_Group]

Today is #RareDiseaseDay! #HearingLoss may be common but each gene involved in diagnoses is individually rare. This is true for #Otoferlin, for which mutations are more common in some parts of the world, but rare in others. #28DaysofRare

[Otoferlin_Registry @Otoferlin_Group]

Today is #CochlearImplantDay! #CochlearImplants can help #Otoferlin patients improve their #Hearing by bypassing the #InnerHairCells that are impacted by #OTOF mutations. #CochlearImplants can be a great solution until #GeneTherapies are available. #CochlearImplantDay2023 #CIDay

[Otoferlin_Registry @Otoferlin_Group]

February is #RareDisease Month where we hope to raise awareness and generate change for those living with rare diseases. #OTOF falls under the rare disease category. Read more about #RareDiseases here: https://t.co/GtgT07vHkJ #RareIsMany

[Otoferlin_Registry @Otoferlin_Group]

Several databases house these mutations that serve as important resources for cataloguing and tracking mutations. One of them is #ClinVar. Here is the #OTOF page: https://t.co/uivS9uGVFK

[Otoferlin_Registry @Otoferlin_Group]

Hundreds of mutations have been found in the #Otoferlin #OTOF gene so far. You may have wondered where exactly can these be found? 🤔

[BCIG @BCIG_UK]

we are looking for a UK-based adult who uses a cochlear implant to take part in a working group to help set the new NHS service specifications for #cochlearimplants. Meetings will be on Teams. Do you want to help shape the future?

[Otoferlin_Registry @Otoferlin_Group]

They describe detailed audiological data on 32/39 of these individuals: 24 (profound), 7 (severe), 1 (mild). 11/39 were diagnosed with an auditory neuropathy/auditory synaptopathy. #OTOF patients are excellent candidates for #CochlearImplantation

[Otoferlin_Registry @Otoferlin_Group]

A tweetorial about #OTOF mutation analysis with massively parallel DNA #sequencing in 2,265 Japanese sensorineural hearing loss patients Iwasa et al., 2019 https://t.co/B2o51blOAy #PLOSONE

[Otoferlin_Registry @Otoferlin_Group]

This study describes the prevalence of #OTOF by sequencing 2,265 patients. This impressive study found that about 1.7% of individuals (or 39/2,265 patients) had variants explaining their hearing impairment.